A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040709



Internal ID19129928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:91521349..91666108hg38UCSC Ensembl
Innerchr13:92173603..92318362hg19UCSC Ensembl
Innerchr13:90971604..91116363hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38144760
hg19144760
hg18144760
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3525481
Samples
Known GenesGPC5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040709
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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